Source: Telegraph >> Read full article and comment
Mackenzie Fox-Byrne, six, is thought to have the world’s rarest genetic disorder as he is the only person on earth suffering from it.
Mackenzie, whose condition has given him learning difficulties and left him unable to speak, is the result of a gene mutation doctors have never seen before.
The condition is so rare doctors have not even come up with a name for it.
Mackenzie’s mother, Sharon Fox-Byrne first noticed something was amiss when his development appeared to be behind that of her other children, Kamara, 14, and Katie, 12.
At three months old, he was still not lifting his head from his cot, he found it difficult to hold down food and had trouble sleeping.
Doctors initially feared he might have the muscle-wasting disease Muscular Dystrophy, but instead tests results showed a much more bewildering picture.
Mrs Fox-Byrne, 40, of Market Drayton, Shropshire, said: “They knew it was unique and told me excitedly that they had found something rare that no one else has.
“Unfortunately, that was all they could tell me. They couldn’t tell me how he is going to progress or whether he might fall ill in the future.
“No one else on earth has ever had this condition.” … Continue reading



